See this dialog response. Regardless of location, all rhabdoid tumours are highly aggressive, have a poor prognosis, and tend to occur in children less than two years of age. What came before?
Conversation transcript:
[1]. What is the significance of Malignant rhabdoid tumour?
[2]. In a recent study, Single nucleotide polymorphism array karyotyping identified deletions or LOH of 22q in 49/51 rhabdoid tumours.
[1]. Are there any other interesting aspects about this article?
[2]. Of these, 14 were copy neutral LOH (or acquired UPD), which is detectable by SNP array karyotyping, but not by FISH, cytogenetics, or array CGH.
[1]. What other detection methods were used?
[2]. MLPA detected a single exon homozygous deletion in one sample that was below the resolution of the SNP array.
[1]. Did any other methods come close?
[2]. SNP array karyotyping can be used to distinguish, for example, a medulloblastoma with an isochromosome 17q from a primary rhabdoid tumour with loss of 22q11.2. When indicated, molecular analysis of INI1 using MLPA and direct sequencing may then be employed.
[1]. When was the best method employed?
[2]. Once the tumour-associated changes are found, an analysis of germline DNA from the patient and the parents can be done to rule out an inherited or de novo germline mutation or deletion of INI1, so that appropriate recurrence risk assessments can be made.
[1]. What else stands out in this article?
[2]. 